"GeneDx"[submitter] AND "PIGA"[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58589	GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	ACE2, ACE2-DT +168 more	Copy number gain	See cases	GPathogenic
Select item 1185707	NM_002641.4(PIGA):c.286_288del	PIGA	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1212595	NM_002641.4(PIGA):c.*85del	PIGA	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1228500	NM_002641.4(PIGA):c.*40G>A	PIGA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 383130	NM_002641.4(PIGA):c.*7G>T	PIGA	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1192975	NM_002641.4(PIGA):c.1434T>G (p.Asn478Lys)	PIGA (N244K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 508489	NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg)	PIGA (G474R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 681365	NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp)	PIGA (R461W +1 more)	Single nucleotide variant (missense variant +1 more)	PIGA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1064449	NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)	PIGA (I217T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1366057	NM_002641.4(PIGA):c.1315C>G (p.Leu439Val)	PIGA (L439V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
Select item 681438	NM_002641.4(PIGA):c.1234C>A (p.Arg412=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 29988	NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)	PIGA (R412* +1 more)	Single nucleotide variant (nonsense +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GPathogenic
Select item 1307531	NM_002641.4(PIGA):c.1223_1228delinsTTCCACTGATAA (p.Pro408_Asp410delinsLeuProLeuIleAsn)	PIGA	Indel (inframe_indel +1 more)	not provided	GUncertain significance
Select item 389491	NM_002641.4(PIGA):c.1214C>T (p.Ala405Val)	PIGA (A405V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1488469	NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala)	PIGA (S168A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1001338	NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln)	PIGA (R166Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 449710	NM_002641.4(PIGA):c.1198C>T (p.Arg400Trp)	PIGA (R400W +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
Select item 677527	NM_002641.4(PIGA):c.1188+159C>T	PIGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677379	NM_002641.4(PIGA):c.1188+53C>T	PIGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817941	NM_002641.4(PIGA):c.1159del (p.Trp387fs)	PIGA (W387fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1254468	NM_002641.4(PIGA):c.1061C>A (p.Ser354Tyr)	PIGA (S120Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 471950	NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser)	PIGA (P350S +1 more)	Single nucleotide variant (missense variant +1 more)	Paroxysmal nocturnal hemoglobinuria 1 +2 more	GUncertain significance
Select item 833890	NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly)	PIGA (E349G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 132818	NM_002641.4(PIGA):c.1030_1032del (p.Leu344del)	PIGA (L344del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GPathogenic
Select item 1053021	NM_002641.4(PIGA):c.1022C>T (p.Pro341Leu)	PIGA (P107L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 512943	NM_002641.4(PIGA):c.981+8G>A	PIGA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2662324	NM_002641.4(PIGA):c.968G>A (p.Ser323Asn)	PIGA (S323N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313947	NM_002641.4(PIGA):c.892G>T (p.Val298Phe)	PIGA (V298F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 387505	NM_002641.4(PIGA):c.879G>A (p.Lys293=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more	GBenign/Likely benign
Select item 677378	NM_002641.4(PIGA):c.849-23T>C	PIGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667857	NM_002641.4(PIGA):c.849-129_849-128dup	PIGA	Duplication (intron variant)	not provided	GBenign
Select item 1205091	NM_002641.4(PIGA):c.848+294C>A	PIGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2580516	NM_002641.4(PIGA):c.831A>T (p.Arg277Ser)	PIGA (R277S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391835	NM_002641.4(PIGA):c.823C>T (p.Arg275Trp)	PIGA (R275W +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 3368339	NM_002641.4(PIGA):c.764C>T (p.Pro255Leu)	PIGA (P21L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1205594	NM_002641.4(PIGA):c.716-4del	PIGA	Deletion (intron variant)	not provided	GLikely benign
Select item 388213	NM_002641.4(PIGA):c.716-10A>G	PIGA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 510812	NM_002641.4(PIGA):c.716-14C>G	PIGA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1294531	NM_002641.4(PIGA):c.716-27C>A	PIGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207807	NM_002641.4(PIGA):c.716-172G>T	PIGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192808	NM_002641.4(PIGA):c.715+273A>G	PIGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667856	NM_002641.4(PIGA):c.715+168C>A	PIGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384071	NM_002641.4(PIGA):c.672T>C (p.Asp224=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 960143	NM_002641.4(PIGA):c.640G>C (p.Asp214His)	PIGA (D214H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 424453	NM_002641.4(PIGA):c.616A>G (p.Ile206Val)	PIGA (I206V)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 423141	NM_002641.4(PIGA):c.613G>A (p.Val205Ile)	PIGA (V205I)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
Select item 2579896	NM_002641.4(PIGA):c.545T>C (p.Ile182Thr)	PIGA (I182T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 471952	NM_002641.4(PIGA):c.525T>C (p.Leu175=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1477450	NM_002641.4(PIGA):c.514A>G (p.Thr172Ala)	PIGA (T172A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3369527	NM_002641.4(PIGA):c.436G>A (p.Gly146Arg)	PIGA (G146R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1161748	NM_002641.4(PIGA):c.420C>T (p.Phe140=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1169584	NM_002641.4(PIGA):c.369G>A (p.Thr123=)	PIGA	Single nucleotide variant (synonymous variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GBenign/Likely benign
Select item 432113	NM_002641.4(PIGA):c.368C>T (p.Thr123Met)	PIGA (T123M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 813740	NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)	PIGA (R119Q)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 132814	NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	PIGA (R119W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 450374	NM_002641.4(PIGA):c.307G>A (p.Ala103Thr)	PIGA (A103T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2192876	NM_002641.4(PIGA):c.301T>G (p.Ser101Ala)	PIGA (S101A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 9958	NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter)	PIGA (Y98*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 389847	NM_002641.4(PIGA):c.293A>G (p.Tyr98Cys)	PIGA (Y98C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 386385	NM_002641.4(PIGA):c.273C>T (p.Tyr91=)	PIGA	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more	GBenign/Likely benign
Select item 3252558	NM_002641.4(PIGA):c.217G>C (p.Ala73Pro)	PIGA (A73P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 390246	NM_002641.4(PIGA):c.198G>A (p.Lys66=)	PIGA	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GBenign/Likely benign
Select item 3368477	NM_002641.4(PIGA):c.137T>C (p.Met46Thr)	PIGA (M46T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 390052	NM_002641.4(PIGA):c.113T>C (p.Val38Ala)	PIGA (V38A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 392740	NM_002641.4(PIGA):c.96C>G (p.Thr32=)	PIGA	Single nucleotide variant (synonymous variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GBenign/Likely benign
Select item 373130	NM_002641.4(PIGA):c.62G>T (p.Ser21Ile)	PIGA (S21I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 430403	NM_002641.4(PIGA):c.61A>G (p.Ser21Gly)	PIGA (S21G)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 380857	NM_002641.4(PIGA):c.55C>T (p.Arg19Trp)	PIGA (R19W)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +3 more	GBenign
Select item 507786	NM_002641.4(PIGA):c.-9del	PIGA	Deletion (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1191247	NM_002641.4(PIGA):c.-62-278T>C	PIGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667855	NM_002641.4(PIGA):c.-63+140C>G	PIGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385896	NM_002641.4(PIGA):c.-63+18C>T	PIGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513555	NM_002641.4(PIGA):c.-63+17C>T	PIGA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382688	NM_002641.4(PIGA):c.-63+13C>T	PIGA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 383325	NM_002641.4(PIGA):c.-63+8C>T	PIGA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1191914	NM_002641.4(PIGA):c.-75A>T	PIGA (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 376854	NM_002641.4(PIGA):c.-75A>G	PIGA (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GLikely benign
Select item 384627	NM_002641.3(PIGA):c.-91C>G	PIGA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1207673	NC_000023.11:g.15335658A>T	PIGA	Single nucleotide variant	not provided	GLikely benign
Select item 668818	NM_002641.3(PIGA):c.-427G>C	PIGA	Single nucleotide variant	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 97